{"orpha":1784,"name":"Acrofrontofacionasal dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Richieri-Costa-Colletto syndrome"],"definition":"A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1784/","orphanet_url":"https://www.orpha.net/en/disease/detail/1784","names":{"fr":{"name":"Dysostose acrofrontofacionasale","synonyms":["Syndrome de Richieri Costa-Colletto"],"definition":"La dysostose acro-fronto-facio-nasale est un syndrome malformatif congénital caractérisé par l'association d'anomalies faciales et squelettiques à une déficience intellectuelle sévère et quelque fois à des anomalies génito-urinaires."},"de":{"name":"Dysostose, akro-fronto-fazio-nasale","synonyms":["Richieri-Costa-Colletto-Syndrom"],"definition":"Die Akro-fronto-fazio-nasale Dysostose, ein Syndrom mit angeborenen Fehlbildungen, ist gekennzeichnet durch die Assoziation von Anomalien des Gesichtes und Skeletts mit schwerem intellektuellem Defizit und gelegentlichen Fehlbildungen des Urogenitalsystems."},"es":{"name":"Disostosis acro-fronto-facio-nasal","synonyms":["Síndrome de Richieri-Costa-Colletto"],"definition":"Es un síndrome de malformación congénita caracterizado por la asociación de anomalías faciales y esqueléticas con una discapacidad intelectual profunda y anomalías genitourinarias ocasionales."},"it":{"name":"Disostosi acro-fronto-facio-nasale","synonyms":["Sindrome di Richieri Costa-Colletto"],"definition":"La disostosi acro-fronto-nasale è una sindrome malformativa congenita caratterizzata dall'associazione tra anomalie facciali e scheletriche con grave deficit cognitivo e anomalie urogenitali occasionali."},"nl":{"name":"Acrofrontofacionasale dysostose","synonyms":["Syndroom van Richieri-Costa-Colletto"],"definition":"Een zeldzaam, congenitaal malformatiesyndroom, gekarakteriseerd door de associatie van anomalieën van aangezicht en skelet met ernstige intellectuele achterstand en occasioneel urogenitale anomalieën."},"pt":{"name":"Disostose acro-fronto-facio-nasal","synonyms":["Síndrome Richieri-Costa-Colletto"],"definition":"A disostose acro-fronto-facio-nasal é uma síndrome de malformações congénitas, caracterizada pela associação de anomalias faciais e esqueléticas com um défice intelectual grave e anomalias geniturinárias ocasionais."},"pl":{"name":"Dyzostoza kończynowo-czołowa-twarzowo-nosowa","synonyms":["Zespół Richieri, Costa i Colletto"]},"cs":{"name":"Akrofrontofacionazální dysostóza","synonyms":["Richieri-Costův-Collettové syndrom","Richieri-Costa-Collettové syndrom"]},"uk":{"name":"Акрофронтофаціоназальний дизостоз","synonyms":["Синдром Річєрі-Коста-Коллетто"],"definition":"A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies."},"zh":{"name":"肢端-前额-面-鼻骨发育不全","synonyms":["Richieri-Costa-Colletto综合征"]},"tr":{"name":"Akrofrontofasiyonazal disostoz","synonyms":["Richieri-Costa-Colletto sendromu"]}},"xrefs":[{"source":"OMIM","code":"201180","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"700995487"},{"source":"MONDO","code":"0008715","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860118","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"484","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"22052670[PMID]_18553510[PMID]_2830788[PMID]_2986457[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22052670[PMID]_18553510[PMID]_2830788[PMID]_2986457[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001088","label":"Brushfield spots","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004132","label":"Dimple on nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null}]}}